ClinGen Allele Registry
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Canonical Allele Identifier:
PA645412190
Gene: COL11A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000315491
ClinVar Variation:
283579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Gly1345_Gly1348del
CA10604533
NM_080629.3:c.4034_4045del